List of variants in gene CLTC reported as pathogenic for non-syndromic intellectual disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_004859.4(CLTC):c.1495C>T (p.Gln499Ter)
NM_004859.4(CLTC):c.1647_1653del
NM_004859.4(CLTC):c.1873_1874del (p.Arg625fs)	rs2032737696
NM_004859.4(CLTC):c.187C>T (p.Arg63Ter)	rs1598211790
NM_004859.4(CLTC):c.1898T>A (p.Leu633Ter)	rs2509384283
NM_004859.4(CLTC):c.1976C>G (p.Ser659Ter)	rs2509384644
NM_004859.4(CLTC):c.2023A>G (p.Ile675Val)	rs2143556646
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del)	rs1598233581
NM_004859.4(CLTC):c.2438del (p.Pro813fs)	rs2509140612
NM_004859.4(CLTC):c.2646_2649del (p.Ile882_Tyr883insTer)	rs2143580660
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)	rs1555606635
NM_004859.4(CLTC):c.2737_2738dup (p.Asp913fs)	rs797044884
NM_004859.4(CLTC):c.2827_2828del (p.Leu943fs)	rs2033035924
NM_004859.4(CLTC):c.3049_3050del (p.Val1017fs)	rs2509150097
NM_004859.4(CLTC):c.3140T>C (p.Leu1047Pro)	rs1555607159
NM_004859.4(CLTC):c.3249+1G>C	rs2509151066
NM_004859.4(CLTC):c.3339dup (p.Ala1114fs)	rs2509151608
NM_004859.4(CLTC):c.3470T>A (p.Leu1157Ter)	rs2143593640
NM_004859.4(CLTC):c.3765+1G>A	rs2143594831
NM_004859.4(CLTC):c.3766-13_3766-5del	rs2143595030
NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter)	rs1555607682
NM_004859.4(CLTC):c.4686_4687del (p.Glu1564fs)	rs2509158651
NM_004859.4(CLTC):c.46C>T (p.Gln16Ter)
NM_004859.4(CLTC):c.4827+1G>T
NM_004859.4(CLTC):c.977_980del (p.Ser326fs)	rs1555604778

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